Linked Data
ClinVar Variation Id:
1065888
ClinVar RCV Id:
RCV001732168
dbSNP Id:
rs1555891584
gnomAD v4:
20-58909738-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58909738G>T , CM000682.2:g.58909738G>T | GRCh38 |
| NC_000020.10:g.57484793G>T , CM000682.1:g.57484793G>T | GRCh37 |
| NC_000020.9:g.56918188G>T | NCBI36 |
| NG_016194.1:g.74999G>T | |
| NG_016194.2:g.74999G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2657G>T | ENSP00000265621.6:p.Arg886Leu | |
| ENST00000419558.7:c.*631G>T | ENSP00000416234.2:n.*631G>T | |
| ENST00000453292.7:c.1372G>T | ENSP00000392000.2:n.1372G>T | |
| ENST00000462499.6:c.554G>T | ENSP00000499758.2:p.Arg185Leu | |
| ENST00000464624.7:c.*615G>T | ENSP00000499607.2:n.*615G>T | |
| ENST00000464788.6:c.596G>T | ENSP00000499239.2:p.Arg199Leu | |
| ENST00000467227.6:c.554G>T | ENSP00000499681.2:p.Arg185Leu | |
| ENST00000467321.6:c.596G>T | ENSP00000499523.2:p.Arg199Leu | |
| ENST00000468895.6:c.773G>T | ENSP00000499551.2:p.Arg258Leu | |
| ENST00000469431.6:c.596G>T | ENSP00000499654.2:p.Arg199Leu | |
| ENST00000470512.6:c.599G>T | ENSP00000499552.2:p.Arg200Leu | |
| ENST00000472183.6:c.596G>T | ENSP00000499673.2:p.Arg199Leu | |
| ENST00000475610.2:n.1279G>T | ||
| ENST00000476935.6:c.551G>T | ENSP00000499409.2:p.Arg184Leu | |
| ENST00000478585.6:c.554G>T | ENSP00000499762.2:p.Arg185Leu | |
| ENST00000480232.6:c.599G>T | ENSP00000499545.2:p.Arg200Leu | |
| ENST00000481039.6:c.554G>T | ENSP00000499767.2:p.Arg185Leu | |
| ENST00000482112.6:c.551G>T | ENSP00000499794.2:p.Arg184Leu | |
| ENST00000485673.6:c.554G>T | ENSP00000499334.2:p.Arg185Leu | |
| ENST00000488546.6:c.554G>T | ENSP00000499332.2:p.Arg185Leu | |
| ENST00000488652.6:c.596G>T | ENSP00000499435.2:p.Arg199Leu | |
| ENST00000492907.6:c.554G>T | ENSP00000499443.2:p.Arg185Leu | |
| ENST00000603546.2:c.596G>T | ENSP00000474802.2:p.Arg199Leu | |
| ENST00000604005.6:c.596G>T | ENSP00000474219.2:p.Arg199Leu | |
| ENST00000663479.2:c.599G>T | ENSP00000499353.2:p.Arg200Leu | |
| ENST00000667293.2:c.596G>T | ENSP00000499293.2:p.Arg199Leu | |
| ENST00000676826.2:c.2705G>T | ENSP00000504675.2:p.Arg902Leu | |
| ENST00000682092.1:n.5057G>T | ||
| ENST00000682134.1:n.2699G>T | ||
| ENST00000682411.1:n.2868G>T | ||
| ENST00000682590.1:n.4960G>T | ||
| ENST00000682680.1:n.4974G>T | ||
| ENST00000682803.1:c.446G>T | ENSP00000507069.1:p.Arg149Leu | |
| ENST00000682829.1:n.3101G>T | ||
| ENST00000682917.1:n.1301G>T | ||
| ENST00000682986.1:n.5190G>T | ||
| ENST00000683015.1:c.1543G>T | ENSP00000506815.1:n.1543G>T | |
| ENST00000683632.1:n.5303G>T | ||
| ENST00000683932.1:n.6549G>T | ||
| ENST00000684284.1:n.3151G>T | ||
| ENST00000684466.1:n.1412G>T | ||
| ENST00000684644.1:n.5093G>T | ||
| ENST00000684761.1:n.1266G>T | ||
| ENST00000306090.12:c.677G>T | ENSP00000304472.12:p.Arg226Leu | |
| ENST00000354359.12:c.776G>T | ENSP00000346328.7:p.Arg259Leu | |
| ENST00000371085.8:c.773G>T MANE Select | ENSP00000360126.3:p.Arg258Leu | |
| ENST00000371100.9:c.2702G>T MANE Plus Clinical | ENSP00000360141.3:p.Arg901Leu | |
| ENST00000656419.1:c.302G>T | ENSP00000499614.1:p.Arg101Leu | |
| ENST00000657090.1:c.596G>T | ENSP00000499380.1:p.Arg199Leu | |
| ENST00000667293.1:c.644G>T | ENSP00000499293.1:p.Arg215Leu | |
| ENST00000265620.11:c.728G>T | ENSP00000265620.7:p.Arg243Leu | |
| ENST00000306090.11:c.94-29G>T | ENSP00000304472.11:n.94-29G>T | |
| ENST00000313949.11:c.*676G>T | ENSP00000323571.7:n.*676G>T | |
| ENST00000354359.11:c.776G>T | ENSP00000346328.7:p.Arg259Leu | |
| ENST00000371075.7:c.*679G>T MANE Plus Clinical | ENSP00000360115.3:n.*679G>T | |
| ENST00000371085.7:c.773G>T | ENSP00000360126.3:p.Arg258Leu | |
| ENST00000371095.7:c.731G>T | ENSP00000360136.3:p.Arg244Leu | |
| ENST00000371100.8:c.2702G>T | ENSP00000360141.3:p.Arg901Leu | |
| ENST00000371102.8:c.2660G>T | ENSP00000360143.4:p.Arg887Leu | |
| ENST00000464624.6:n.2989G>T | ||
| ENST00000470512.5:n.847G>T | ||
| ENST00000476196.5:n.1066G>T | ||
| ENST00000476935.5:n.762G>T | ||
| ENST00000477931.5:n.888G>T | ||
| ENST00000480232.5:n.792G>T | ||
| ENST00000480975.5:n.772G>T | ||
| ENST00000481039.5:n.690G>T | ||
| ENST00000487862.5:n.1007G>T | ||
| ENST00000488546.5:n.632G>T | ||
| ENST00000488652.5:n.863G>T | ||
| ENST00000492907.5:n.724G>T | ||
| ENST00000493958.5:n.496G>T | ||
| ENST00000494081.5:n.328G>T | ||
| ENST00000496934.5:n.2062G>T | ||
| NM_000516.4:c.773G>T | NP_000507.1:p.Arg258Leu | |
| NM_000516.5:c.773G>T | NP_000507.1:p.Arg258Leu | |
| NM_001077488.2:c.776G>T | NP_001070956.1:p.Arg259Leu | |
| NM_001077488.3:c.776G>T | NP_001070956.1:p.Arg259Leu | |
| NM_001077489.2:c.728G>T | NP_001070957.1:p.Arg243Leu | |
| NM_001077489.3:c.728G>T | NP_001070957.1:p.Arg243Leu | |
| NM_001077490.1:c.*634G>T | NP_001070958.1:n.*634G>T | |
| NM_001077490.2:c.*634G>T | NP_001070958.1:n.*634G>T | |
| NM_001309840.1:c.596G>T | NP_001296769.1:p.Arg199Leu | |
| NM_001309861.1:c.596G>T | NP_001296790.1:p.Arg199Leu | |
| NM_016592.2:c.*679G>T | NP_057676.1:n.*679G>T | |
| NM_016592.3:c.*679G>T | NP_057676.1:n.*679G>T | |
| NM_080425.2:c.2702G>T | NP_536350.2:p.Arg901Leu | |
| NM_080425.3:c.2702G>T | NP_536350.2:p.Arg901Leu | |
| NM_080426.2:c.731G>T | NP_536351.1:p.Arg244Leu | |
| NM_080426.3:c.731G>T | NP_536351.1:p.Arg244Leu | |
| NR_003259.1:c.-4294966433G>T | ||
| XM_017027812.2:c.2705G>T | XP_016883301.1:p.Arg902Leu | |
| XM_017027813.2:c.2660G>T | XP_016883302.1:p.Arg887Leu | |
| XM_017027814.2:c.2657G>T | XP_016883303.1:p.Arg886Leu | |
| XM_017027815.1:c.632G>T | XP_016883304.1:p.Arg211Leu | |
| XM_017027816.1:c.551G>T | XP_016883305.1:p.Arg184Leu | |
| XM_017027817.1:c.551G>T | XP_016883306.1:p.Arg184Leu | |
| XM_017027818.2:c.551G>T | XP_016883307.1:p.Arg184Leu | |
| XM_017027819.1:c.551G>T | XP_016883308.1:p.Arg184Leu | |
| XM_017027820.1:c.551G>T | XP_016883309.1:p.Arg184Leu | |
| XM_024451872.1:c.677G>T | XP_024307640.1:p.Arg226Leu | |
| XM_024451873.1:c.596G>T | XP_024307641.1:p.Arg199Leu | |
| XM_024451874.1:c.596G>T | XP_024307642.1:p.Arg199Leu | |
| XM_024451875.1:c.596G>T | XP_024307643.1:p.Arg199Leu | |
| XR_002958471.1:n.1480G>T | ||
| NM_000516.6:c.773G>T | NP_000507.1:p.Arg258Leu | |
| NM_001077488.4:c.776G>T | NP_001070956.1:p.Arg259Leu | |
| NM_001077489.4:c.728G>T | NP_001070957.1:p.Arg243Leu | |
| NM_001309840.2:c.596G>T | NP_001296769.1:p.Arg199Leu | |
| NM_001309861.2:c.596G>T | NP_001296790.1:p.Arg199Leu | |
| NM_016592.4:c.*679G>T | NP_057676.1:n.*679G>T | |
| NM_080426.4:c.731G>T | NP_536351.1:p.Arg244Leu | |
| NM_000516.7:c.773G>T MANE Select | NP_000507.1:p.Arg258Leu | |
| NM_001077488.5:c.776G>T | NP_001070956.1:p.Arg259Leu | |
| NM_001077490.3:c.*634G>T | NP_001070958.1:n.*634G>T | |
| NM_016592.5:c.*679G>T MANE Plus Clinical | NP_057676.1:n.*679G>T | |
| NM_080425.4:c.2702G>T MANE Plus Clinical | NP_536350.2:p.Arg901Leu |